Alexander Sumaroka

Penn Presbyterian Medical Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

51h-index8.8kcitations135works4.22yr avg
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Research Topics

Retinal Development and Disorders(120), Retinal Diseases and Treatments(85), Photoreceptor and optogenetics research(32), Glaucoma and retinal disorders(17), Retinal and Optic Conditions(11)

Publications135 total

Photoreceptor Disease at Ambiguous Transition Zones in Inherited Retinal Degenerations
Translational Vision Science & Technology·2025Open Access
Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial
Molecular Therapy·2025· 2 citedOpen Access
Detailed structural abnormalities associated with a novel <i>VCAN</i> variant in a family with versican vitreoretinopathy
Ophthalmic Genetics·2025
Retinal Degeneration Associated With Biallelic <i>RDH12</i> Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients
Investigative Ophthalmology & Visual Science·2024· 6 citedOpen Access
Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations
iScience·2024· 1 citedOpen Access
Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy
International Journal of Molecular Sciences·2024· 3 citedOpen Access
Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations
Cell Death and Disease·2024· 2 citedOpen Access
Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2, multicentre, open-label, unilateral dose escalation study
The Lancet·2024· 28 cited
Anti-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of TRPM1-associated congenital stationary night blindness
American Journal of Ophthalmology Case Reports·2024· 5 citedOpen Access
Detailed phenotype and long-term follow-up of <i>RAB28-</i> associated cone-rod dystrophy
Ophthalmic Genetics·2024· 1 cited
Corrigendum to “Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT” [Vis. Res. 218 (2024) 108379]
Vision Research·2024
Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT
Vision Research·2024· 2 citedOpen Access
Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation–Effect of an ALG6 Modifier Variant
International Journal of Molecular Sciences·2024· 4 citedOpen Access
Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in <i>C1QTNF5</i>
Investigative Ophthalmology & Visual Science·2023· 3 citedOpen Access
Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes
American Journal of Ophthalmology Case Reports·2023· 14 citedOpen Access
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial
Translational Vision Science & Technology·2023· 3 citedOpen Access
Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by <i>BEST1</i> Mutations
Investigative Ophthalmology & Visual Science·2022· 2 citedOpen Access
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations
Vision Research·2022· 7 citedOpen Access
Night vision restored in days after decades of congenital blindness
iScience·2022· 34 citedOpen Access
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial
Nature Medicine·2022· 121 citedOpen Access
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Frequent Co-authors

Artur V. Cideciyan(50), Samuel G. Jacobson(50), Sharon Schwartz(37), Alejandro J. Román(36), Tomás S. Alemán(32), Edwin M. Stone(23), Elizabeth A. M. Windsor(21), Małgorzata Świder(15), William W. Hauswirth(12), Elise Héon(10), Geoffrey K. Aguirre(8), Sanford L. Boye(7), William A. Beltran(7), Janet D. Steinberg(7), Shalesh Kaushal(6), Simone Iwabe(6), András M. Komáromy(5), Gustavo D. Aguirre(5), Krzysztof Palczewski(5), Waldo Herrera(5)